Abnormal glycosylation in Joubert syndrome type 10

Cilia

Volumn 6, Issue 1, 2017, Pages

  Kane, Megan S ^a,b   Davids, Mariska ^a   Bond, Michelle R ^c   Adams, Christopher J ^a   Grout, Megan E ^d   Phelps, Ian G ^d   O'Day, Diana R ^d   Dempsey, Jennifer C ^d   Li, Xeuli ^e   Golas, Gretchen ^a   Vezina, Gilbert ^f   Gunay Aygun, Meral ^a,g   Hanover, John A ^c   Doherty, Dan ^d   He, Miao ^e   Malicdan, May Christine V ^a   Gahl, William A ^a   Boerkoel, Cornelius F ^a,h  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b BETTY AND GUY BEATTY CENTER FOR INTEGRATED RESEARCH   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Ciliopathy; CMP sialic acid; Glycosylation; Joubert syndrome; Molar tooth sign

Indexed keywords

CYTIDINE PHOSPHATE; GLUTAMINE; LECTIN; LYSINE; NUCLEOTIDE; SIALIC ACID;

AMINO ACID SUBSTITUTION; AMPEROMETRY; ANION EXCHANGE CHROMATOGRAPHY; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; EXOME; FIBROBLAST CULTURE; GENE; GENE EXPRESSION; GENE MUTATION; GLYCOSYLATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; JOUBERT SYNDROME; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; OFD1 GENE; PATHOGENESIS; PRESCHOOL CHILD; SEQUENCE ANALYSIS; SIALYLATION; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

EID: 85016145978     PISSN: None     EISSN: 20462530     Source Type: Journal    
DOI: 10.1186/s13630-017-0048-6     Document Type: Article

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